{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T02:05:31Z","timestamp":1792807531376,"version":"4.5.0"},"reference-count":83,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000890","name":"National Multiple Sclerosis Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000890","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain Research"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1016\/j.brainres.2012.03.068","type":"journal-article","created":{"date-parts":[[2012,7,6]],"date-time":"2012-07-06T11:04:36Z","timestamp":1341572676000},"page":"198-205","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":102,"special_numbering":"C","title":["How do mutations in GJB1 cause X-linked Charcot\u2013Marie\u2013Tooth disease?"],"prefix":"10.1016","volume":"1487","author":[{"given":"Kleopas A.","family":"Kleopa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles K.","family":"Abrams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven S.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.brainres.2012.03.068_bib1","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1097\/00005072-199907000-00004","article-title":"Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"58","author":"Abel","year":"1999","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.brainres.2012.03.068_bib2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0006-8993(00)03327-8","article-title":"Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot\u2013Marie\u2013Tooth disease","volume":"900","author":"Abrams","year":"2001","journal-title":"Brain Res"},{"key":"10.1016\/j.brainres.2012.03.068_bib3","doi-asserted-by":"crossref","first-page":"3980","DOI":"10.1073\/pnas.261713499","article-title":"Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"99","author":"Abrams","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.brainres.2012.03.068_bib4","doi-asserted-by":"crossref","first-page":"10548","DOI":"10.1523\/JNEUROSCI.23-33-10548.2003","article-title":"Pathogenesis of X-linked Charcot\u2013Marie\u2013Tooth disease: Differential effects of two mutations in connexin 32","volume":"23","author":"Abrams","year":"2003","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib5","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/jnr.21561","article-title":"Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct","volume":"86","author":"Ahn","year":"2008","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.brainres.2012.03.068_bib6","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1007\/s004390050812","article-title":"Genotype\/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene","volume":"103","author":"Ainsworth","year":"1998","journal-title":"Hum. Genet."},{"key":"10.1016\/j.brainres.2012.03.068_bib7","doi-asserted-by":"crossref","first-page":"4545","DOI":"10.1523\/JNEUROSCI.17-12-04545.1997","article-title":"Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin32","volume":"17","author":"Anzini","year":"1997","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib8","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1083\/jcb.142.4.1095","article-title":"Functional gap junctions in the Schwann cell myelin sheath","volume":"142","author":"Balice-Gordon","year":"1998","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.brainres.2012.03.068_bib9","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.nmd.2005.09.008","article-title":"Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot\u2013Marie\u2013Tooth neuropathy presenting a novel mutation in GJB1 promoter and a rare polymorphism in LITAF\/SIMPLE","volume":"16","author":"Beauvais","year":"2006","journal-title":"Neuromuscular Disord."},{"key":"10.1016\/j.brainres.2012.03.068_bib10","first-page":"S136","article-title":"CNS abnormalities in a family with a connexin32 mutation and peripheral neuropathy. Eur","volume":"4","author":"Bell","year":"1996","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.brainres.2012.03.068_bib11","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1126\/science.8266101","article-title":"Connexin mutations in X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"262","author":"Bergoffen","year":"1993","journal-title":"Science."},{"key":"10.1016\/j.brainres.2012.03.068_bib12","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.nbd.2005.09.005","article-title":"Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"21","author":"Bicego","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.brainres.2012.03.068_bib13","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1212\/WNL.50.4.1074","article-title":"X-linked Charcot\u2013Marie\u2013Tooth disease with connexin 32 mutations\u2013clinical and electrophysiological study","volume":"50","author":"Birouk","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib14","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1007\/s004390050442","article-title":"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot\u2013Marie\u2013Tooth disease and hereditary neuropathy with liability to pressure palsies","volume":"99","author":"Bort","year":"1997","journal-title":"Hum. Genet."},{"key":"10.1016\/j.brainres.2012.03.068_bib15","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1016\/0896-6273(94)90063-9","article-title":"Null mutations of connexin32 in patients with X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"13","author":"Bruzzone","year":"1994","journal-title":"Neuron"},{"key":"10.1016\/j.brainres.2012.03.068_bib16","doi-asserted-by":"crossref","first-page":"3752","DOI":"10.1523\/JNEUROSCI.19-10-03752.1999","article-title":"Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations","volume":"19","author":"Castro","year":"1999","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib17","doi-asserted-by":"crossref","first-page":"9077","DOI":"10.1523\/JNEUROSCI.17-23-09077.1997","article-title":"Altered trafficking of mutant connexin32","volume":"17","author":"Desch\u00eanes","year":"1997","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib18","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1093\/brain\/124.10.1958","article-title":"Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"124","author":"Dubourg","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.brainres.2012.03.068_bib19","first-page":"361","article-title":"Mutation in the nerve-specific 5\u2019 non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family","volume":"12","author":"Flagiello","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.brainres.2012.03.068_bib20","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/0092-8674(92)90591-Y","article-title":"Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons","volume":"71","author":"Giese","year":"1992","journal-title":"Cell"},{"key":"10.1016\/j.brainres.2012.03.068_bib21","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s10048-010-0247-4","article-title":"GJB1\/Connexin 32 whole gene deletions in patients with X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"11","author":"Gonzaga-Jauregui","year":"2010","journal-title":"Neurogenetics"},{"key":"10.1016\/j.brainres.2012.03.068_bib22","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/(SICI)1097-4598(200002)23:2<182::AID-MUS6>3.0.CO;2-W","article-title":"Unusual electrophysiological findings in X-linked dominant Charcot\u2013Marie\u2013Tooth disease","volume":"23","author":"Gutierrez","year":"2000","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.brainres.2012.03.068_bib23","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s004010000275","article-title":"Pathological findings in the X-linked form of Charcot\u2013Marie\u2013Tooth disease: a morphometric and ultrastructural analysis","volume":"101","author":"Hahn","year":"2001","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.brainres.2012.03.068_bib24","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1093\/brain\/113.5.1511","article-title":"X-linked dominant hereditary motor and sensory neuropathy","volume":"113","author":"Hahn","year":"1990","journal-title":"Brain"},{"key":"10.1016\/j.brainres.2012.03.068_bib25","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/j.1749-6632.1999.tb08598.x","article-title":"Genotype\/phenotype correlations in X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"883","author":"Hahn","year":"1999","journal-title":"Ann. N.Y. Acad. Sci"},{"key":"10.1016\/j.brainres.2012.03.068_bib26","doi-asserted-by":"crossref","first-page":"S39","DOI":"10.1002\/1097-4598(2000)999:9<::AID-MUS8>3.0.CO;2-C","article-title":"Clinical and pathological observations in men lacking the gap junction protein connexin 32","author":"Hahn","year":"2000","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.brainres.2012.03.068_bib27","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1136\/jmg.17.5.329","article-title":"Genetic aspects of hereditary motor and sensory neuropathy (types I and II)","volume":"176","author":"Harding","year":"1980","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.brainres.2012.03.068_bib28","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1093\/brain\/awg012","article-title":"Demyelinating and axonal features of Charcot\u2013Marie\u2013Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients","volume":"126","author":"Hattori","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.brainres.2012.03.068_bib29","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1093\/brain\/11.2.230","article-title":"Muscular atrophy of the peroneal type affecting many members of a family","volume":"11","author":"Herringham","year":"1888","journal-title":"Brain"},{"key":"10.1016\/j.brainres.2012.03.068_bib30","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/ana.20267","article-title":"Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction","volume":"56","author":"Houlden","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.brainres.2012.03.068_bib31","doi-asserted-by":"crossref","first-page":"7111","DOI":"10.1523\/JNEUROSCI.1319-05.2005","article-title":"Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild type connexin32 in myelinating Schwann cells","volume":"25","author":"Huang","year":"2005","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib32","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1212\/WNL.47.2.541","article-title":"Mutations of noncoding region of the connexin32 gene in X-linked dominant Charcot\u2013Marie\u2013Tooth neuropathy","volume":"47","author":"Ionasescu","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib33","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.mcn.2006.05.001","article-title":"The effects of a dominant connexin32 mutant in myelinating Schwann cells","volume":"32","author":"Jeng","year":"2006","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib34","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1007\/s00415-004-0284-8","article-title":"A V38A mutation in X-linked Charcot\u2013Marie\u2013Tooth neuropathy with unusual clinical features","volume":"251","author":"Karadima","year":"2004","journal-title":"J. Neurol."},{"key":"10.1016\/j.brainres.2012.03.068_bib35","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/jnr.10255","article-title":"Cellular mechanisms of connexin32 mutations associated with CNS manifestations","volume":"68","author":"Kleopa","year":"2002","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.brainres.2012.03.068_bib36","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1212\/01.wnl.0000196479.93722.59","article-title":"Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X","volume":"66","author":"Kleopa","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib37","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1093\/brain\/123.7.1516","article-title":"Neurological dysfunction and axonal degeneration in Charcot\u2013Marie\u2013Tooth disease","volume":"123","author":"Krajewski","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.brainres.2012.03.068_bib38","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S0022-510X(02)00394-5","article-title":"Phenotypic expresssion of a Pro 87 to Leu mutatin in the connexin 32 gene in a large Swiss family with Charcot\u2013Marie\u2013Tooth neuropathy","volume":"87","author":"Kuntzer","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.brainres.2012.03.068_bib39","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/j.1085-9489.2006.00080.x","article-title":"SIMPLE mutation analysis in dominant demyelinating Charcot\u2013Marie\u2013Tooth disease: three novel mutations","volume":"11","author":"Latour","year":"2006","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.brainres.2012.03.068_bib40","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1136\/jnnp.73.3.304","article-title":"Six novel connexin32 (GJB1) mutations in X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"73","author":"Lee","year":"2002","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.brainres.2012.03.068_bib41","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1002\/ana.20459","article-title":"Severe neuropathy with leaky connexin32 hemichannels.","volume":"57","author":"Liang","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.brainres.2012.03.068_bib42","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1620\/tjem.188.239","article-title":"Deletion and nonsense mutations of the connexin 32 gene associated with Charcot\u2013Marie\u2013Tooth disease","volume":"188","author":"Lin","year":"1999","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.brainres.2012.03.068_bib43","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1136\/jnnp.66.6.803","article-title":"Central nervous system involvement in a novel connexin 32 mutation affecting identical twins","volume":"66","author":"Marques","year":"1999","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.brainres.2012.03.068_bib44","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1046\/j.1471-4159.2000.740711.x","article-title":"Analysis of gap junctions assembly using mutated connexins detected in Charcot\u2013Marie\u2013Tooth X-linked disease","volume":"74","author":"Martin","year":"2000","journal-title":"J. Neurochem."},{"key":"10.1016\/j.brainres.2012.03.068_bib45","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/ng1195-281","article-title":"Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies","volume":"11","author":"Martini","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.brainres.2012.03.068_bib46","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s100380170064","article-title":"Phenotypes of X-linked Charcot\u2013Marie\u2013Tooth disease and altered trafficking of mutant Connexin 32 (GJB1)","volume":"46","author":"Matsuyama","year":"2001","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.brainres.2012.03.068_bib47","doi-asserted-by":"crossref","first-page":"5963","DOI":"10.1523\/JNEUROSCI.23-13-05963.2003","article-title":"Connexins are critical for normal myelination in the central nervous system","volume":"23","author":"Menichella","year":"2003","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib48","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/S0022-510X(01)00454-3","article-title":"Clinical phentoype in X-linked Charcot\u2013Marie\u2013Tooth disease with an entire deletion of the connexin 32 coding sequence","volume":"185","author":"Nakagawa","year":"2001","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.brainres.2012.03.068_bib49","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.sbi.2010.05.003","article-title":"Structural and functional studies of gap junction channels","volume":"20","author":"Nakagawa","year":"2010","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.brainres.2012.03.068_bib50","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1146\/annurev.neuro.30.051606.094309","article-title":"Axon\u2013glial signaling and the glial support of axon function","volume":"31","author":"Nave","year":"2008","journal-title":"Annu. Rev. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib51","doi-asserted-by":"crossref","first-page":"2558","DOI":"10.1212\/WNL.43.12.2558","article-title":"Intermediate nerve conduction velocities define X-linked Charcot\u2013Marie\u2013Tooth neuropathy families","volume":"43","author":"Nicholson","year":"1993","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib52","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1136\/jnnp.61.1.43","article-title":"Slowing of central conduction in X-linked Charcot\u2013Marie\u2013Tooth neuropathy shown by brain auditory evoked responses","volume":"61","author":"Nicholson","year":"1996","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.brainres.2012.03.068_bib53","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1212\/WNL.51.5.1412","article-title":"Efficient neurophysiological selection of X-linked Charcot\u2013Marie\u2013Tooth families","volume":"51","author":"Nicholson","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib54","doi-asserted-by":"crossref","first-page":"4549","DOI":"10.1523\/JNEUROSCI.23-11-04549.2003","article-title":"Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS","volume":"23","author":"Odermatt","year":"2003","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib55","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/S0896-6273(00)80973-3","article-title":"Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot\u2013Marie\u2013Tooth disease","volume":"19","author":"Oh","year":"1997","journal-title":"Neuron"},{"key":"10.1016\/j.brainres.2012.03.068_bib56","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1091\/mbc.7.6.907","article-title":"Connexin 32 mutations from X-linked Charcot\u2013Marie\u2013Tooth disease patients: functional defects and dominant negative effects","volume":"7","author":"Omori","year":"1996","journal-title":"Mol. Biol. Cell."},{"key":"10.1016\/j.brainres.2012.03.068_bib57","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/j.mcn.2007.01.010","article-title":"Loss-of-function GJA12\/Connexin47 mutations cause Pelizaeus\u2013Merzbacher-like disease","volume":"34","author":"Orthmann-Murphy","year":"2007","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib58","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1136\/jnnp.65.6.947a","article-title":"Central nervous system involvement in four patients with Charcot\u2013Marie\u2013Tooth disease with connexin 32 extracellular mutations","volume":"65","author":"Panas","year":"1998","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.brainres.2012.03.068_bib59","doi-asserted-by":"crossref","first-page":"4063","DOI":"10.1523\/JNEUROSCI.18-11-04063.1998","article-title":"Connexin32 mutations associated with X-linked Charcot\u2013Marie\u2013Tooth disease show two distinct behaviors: loss of function and altered gating properties","volume":"18","author":"Ressot","year":"1998","journal-title":"J. Neurosci"},{"key":"10.1016\/j.brainres.2012.03.068_bib60","doi-asserted-by":"crossref","first-page":"2887","DOI":"10.1016\/S0006-3495(99)77444-8","article-title":"The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions","volume":"76","author":"Ri","year":"1999","journal-title":"Biophys. J."},{"key":"10.1016\/j.brainres.2012.03.068_bib61","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E","article-title":"Charcot\u2013Marie\u2013Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families","volume":"10","author":"Rouger","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.brainres.2012.03.068_bib62","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1212\/WNL.37.9.1460","article-title":"Hereditary motor and sensory neuropathy, X-linked: a half century follow-up","volume":"37","author":"Rozear","year":"1987","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib63","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1002\/(SICI)1097-4547(19980115)51:2<174::AID-JNR6>3.0.CO;2-A","article-title":"Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts","volume":"51","author":"Sahenk","year":"1998","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.brainres.2012.03.068_bib64","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1093\/brain\/122.8.1563","article-title":"Distal axonopathy in peripheral nerves of PMP22 mutant mice","volume":"122","author":"Sancho","year":"1999","journal-title":"Brain"},{"key":"10.1016\/j.brainres.2012.03.068_bib65","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","article-title":"Charcot\u2013Marie\u2013Tooth disease subtypes and genetic testing strategies","volume":"69","author":"Saporta","year":"2011","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.brainres.2012.03.068_bib66","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.nbd.2008.01.009","article-title":"Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants","volume":"30","author":"Sargiannidou","year":"2008","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.brainres.2012.03.068_bib67","doi-asserted-by":"crossref","first-page":"4736","DOI":"10.1523\/JNEUROSCI.0325-09.2009","article-title":"Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects","volume":"29","author":"Sargiannidou","year":"2009","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib68","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/(SICI)1098-1136(199809)24:1<8::AID-GLIA2>3.0.CO;2-3","article-title":"Connexin32-null mice develop a demyelinating peripheral neuropathy","volume":"24","author":"Scherer","year":"1998","journal-title":"Glia"},{"key":"10.1016\/j.brainres.2012.03.068_bib69","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1523\/JNEUROSCI.3082-04.2005","article-title":"Transgenic expression of human Connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice","volume":"25","author":"Scherer","year":"2005","journal-title":"J. Neurosci."},{"key":"10.1016\/j.brainres.2012.03.068_bib70","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1002\/glia.20751","article-title":"Molecular mechanisms of inherited demyelinating neuropathies","volume":"56","author":"Scherer","year":"2008","journal-title":"Glia"},{"key":"10.1016\/j.brainres.2012.03.068_bib71","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/S0022-510X(99)00146-X","article-title":"X-linked dominant Charcot\u2013Marie\u2013Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations","volume":"167","author":"Senderek","year":"1999","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.brainres.2012.03.068_bib72","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1212\/01.wnl.0000256709.08271.4d","article-title":"CMT1X phenotypes represent loss of GJB1 gene function","volume":"68","author":"Shy","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib73","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jns.2008.12.031","article-title":"Persistent CNS dysfunction in a boy with CMT1X","volume":"279","author":"Siskind","year":"2009","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.brainres.2012.03.068_bib74","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1529-8027.2011.00332.x","article-title":"Phenotype expression in women with CMT1X","volume":"16","author":"Siskind","year":"2011","journal-title":"J. Perpher. Nerv. Syst."},{"key":"10.1016\/j.brainres.2012.03.068_bib75","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1093\/cercor\/10.7.684","article-title":"Myelination defects and neuronal hyperexcitability in the neocortex of connexin 32-deficient mice","volume":"10","author":"Sutor","year":"2000","journal-title":"Cereb. Cortex"},{"key":"10.1016\/j.brainres.2012.03.068_bib76","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1002\/(SICI)1097-4598(199910)22:10<1442::AID-MUS16>3.0.CO;2-6","article-title":"Demyelinating X-linked Charcot\u2013Marie\u2013Tooth disease: unusual electrophysiological findings","volume":"22","author":"Tabaraud","year":"1999","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.brainres.2012.03.068_bib77","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1091\/mbc.11.6.1933","article-title":"Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins","volume":"11","author":"VanSlyke","year":"2000","journal-title":"Mol. Biol. Cell."},{"key":"10.1016\/j.brainres.2012.03.068_bib78","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1097\/NEN.0b013e3181efa658","article-title":"Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating\/type I Charcot\u2013Marie\u2013Tooth neuropathy","volume":"69","author":"Vavlitou","year":"2010","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.brainres.2012.03.068_bib79","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1136\/jnnp.63.3.379","article-title":"Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot\u2013Marie\u2013Tooth neuropathy with only female family members affected","volume":"63","author":"Wicklein","year":"1997","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.brainres.2012.03.068_bib80","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1515\/BC.2002.076","article-title":"Structural and functional diversity of connexin genes in the mouse and human genome","volume":"383","author":"Willecke","year":"2002","journal-title":"Biol. Chem."},{"key":"10.1016\/j.brainres.2012.03.068_bib81","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1212\/WNL.0b013e31820a0ceb","article-title":"A retrospective review of X-linked Charcot\u2013Marie\u2013Tooth disease in childhood","volume":"76","author":"Yiu","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.brainres.2012.03.068_bib82","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1006\/nbdi.2002.0545","article-title":"Diverse trafficking abnormalities for connexin32 mutants causing CMT","volume":"11","author":"Yum","year":"2002","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.brainres.2012.03.068_bib83","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.nbd.2010.01.010","article-title":"Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30","volume":"38","author":"Yum","year":"2010","journal-title":"Neurobiol. Dis."}],"container-title":["Brain Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006899312011201?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006899312011201?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T17:53:37Z","timestamp":1757786017000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006899312011201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":83,"alternative-id":["S0006899312011201"],"URL":"https:\/\/doi.org\/10.1016\/j.brainres.2012.03.068","relation":{},"ISSN":["0006-8993"],"issn-type":[{"value":"0006-8993","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"How do mutations in GJB1 cause X-linked Charcot\u2013Marie\u2013Tooth disease?","name":"articletitle","label":"Article Title"},{"value":"Brain Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.brainres.2012.03.068","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}